A case of mosaicism in ectodermal dysplasia–skin fragility syndrome
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DOI: 10.1111/bjd.15374
Abstract: DEAR EDITOR, Ectodermal dysplasia–skin fragility syndrome (EDSFS) is an autosomal recessive genodermatosis characterized by skin fragility, chronic cheilitis, palmoplantar keratoderma, abnormal hair growth and nail dystrophy. ED-SFS is caused by mutations in the PKP1 gene… read more here.
Keywords: mutation; dysplasia skin; skin fragility; skin ... See more keywords